Evidence map›Paper›PMID 39871280›Full record

SynthesisBMC medical genomics2025

Association of MTHFD1 G1958A (rs2236225) gene polymorphism with the risk of congenital heart disease: a systematic review and meta-analysis.

Kang Yi, Shao-E He, Tao Guo, Zi-Qiang Wang, Xin Zhang, Jian-Guo Xu, Hao-Yue Zhang, Wei-Guo Liu, Tao You

Abstract readMeta-AnalysisSystematic Review
In one paragraph

Synthesis in BMC medical genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Article
  3. Article
  4. Folic acid supplementation on congenital heart disease and its dual character.Current research in pharmacology and drug discovery · 2025
    Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Kang Yi *Department of Cardiovascular Surgery, Gansu Provincial Hospital, No. 204, Donggang West Road, Lanzhou City, Gansu Province, 730000, China. yikang09@126.com.
Shao-E He *Gansu International Scientific and Technological Cooperation Base of Diagnosis and Treatment of Congenital Heart Disease, Lanzhou, China.
Tao GuoDepartment of Cardiovascular Surgery, Gansu Provincial Hospital, No. 204, Donggang West Road, Lanzhou City, Gansu Province, 730000, China.
Zi-Qiang WangDepartment of Cardiovascular Surgery, Gansu Provincial Hospital, No. 204, Donggang West Road, Lanzhou City, Gansu Province, 730000, China.
Xin ZhangGansu International Scientific and Technological Cooperation Base of Diagnosis and Treatment of Congenital Heart Disease, Lanzhou, China.
Jian-Guo XuEvidence-Based Medicine Center, School of Basic Medical Sciences, Lanzhou University, Lanzhou, China.
Hao-Yue ZhangGansu International Scientific and Technological Cooperation Base of Diagnosis and Treatment of Congenital Heart Disease, Lanzhou, China.
Wei-Guo LiuGansu International Scientific and Technological Cooperation Base of Diagnosis and Treatment of Congenital Heart Disease, Lanzhou, China.
Tao YouDepartment of Cardiovascular Surgery, Gansu Provincial Hospital, No. 204, Donggang West Road, Lanzhou City, Gansu Province, 730000, China.

Funding

Medicine Research Fund Project of Gansu Provincial Hospital 23GSSYF-30Natural Science Foundation of Gansu Province 22JR5RA655
6 · The paper itself

Abstract

backgroundWe did this study to better clarify the correlations of methylenetetrahydrofolate dehydrogenase 1 (MTHFD1)-G1958A (rs2236225) gene polymorphism with the risk of congenital heart diseases (CHD) and its subgroups.

methodsRelevant articles were searched in PubMed, Web of Science, Cochrane Library, Embase, CNKI, VIP database and Wanfang DATA until October 2023. We will use odds ratios (ORs) and 95% confidence intervals (CIs) to examine the potential associations of MTHFD1- G1958A gene polymorphism with CHD and its subgroups.

resultsWe included a total of 9 eligible studies, encompassing 1917 children with CHD, 1863 healthy children, 1717 mothers of the children with CHD and 1666 mothers of healthy children. In our study, the meta-analysis of fetal group revealed no significant association between any of the five genetic models for the MTHFD1-G1958A polymorphism and the risk of CHD. Subgroup analysis showed that associations between the MTHFD1-G1958A polymorphism and Tetralogy of Fallot (TOF) risk in the homozygote model (AA vs. GG, OR = 2.82, 95%CI [1.16, 6.86], P = 0.02) and recessive model (AA vs. GG + GA, OR = 3.09, 95%CI [1.36, 7.03], P = 0.007). In addition, the MTHFD1-G1958A polymorphism was associated with the risk of CHD in racial subgroup, increasing the risk of CHD in Caucasians. In maternal analysis, 2 genetic models of MTHFD1-G1958A polymorphism increased the risk of CHD: the heterozygote model (GA vs. GG, OR = 1.22, 95%CI [1.04, 1.42], P = 0.01), and the dominance model (GA + AA vs. GG, OR = 1.17, 95%CI [1.01, 1.34], P = 0.03).

conclusionsThe fetal MTHFD1-G1958A (rs2236225) gene polymorphism increase their risk of TOF. The maternal MTHFD1-G1958A polymorphism has a strong correlation with the risk of CHD, and there are racial differences in this correlation. Compared with GG genotype, the GA genotype increases the risk of CHD.

Indexed as

Genetic Predisposition to DiseaseHeart Defects, CongenitalMethylenetetrahydrofolate Dehydrogenase (NADP)Minor Histocompatibility AntigensPolymorphism, Single NucleotideHumansRisk FactorsMethylenetetrahydrofolate Dehydrogenase (NADP)Minor Histocompatibility AntigensMTHFD1 protein, humanHeart defects, CongenitalMeta-analysisMethylenetetrahydrofolate dehydrogenase 1Polymorphism, Single nucleotideSystematic review

Identifiers

PMID39871280
PMCPMC11771109

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.